ESPE Abstracts

Background: Achondroplasia (ACH) is the most common skeletal dysplasia with an incidence of 1/20,000. Acanthosis nigricans (AN) is commonly seen in conditions associated with reduced insulin sensitivity. AN has been reported in association with skeletal dysplasias due to activating mutations in FGFR3, including ACH.Objective: Our aim was to evaluate insulin sensitivity and glucose metabolism in patients with ACH carrying...

Objective: Secondary osteoporosis has a high rate of accompanying chronic diseases. We aimed to review the clinical and laboratory features, underlying causes, Dual Energy X-ray Absorptiometry (DEXA) results before and after treatment of patients diagnosed with secondary osteoporosis and to determine the relationship between this condition and fracture rates.Methods: This study was designed as a single-center, descriptiv...

Aim: Gonadotropin-releasing hormone analogues (GnRHa) are widely used in the treatment of idiopathic central precocious puberty (ICPP) cases due to premature maturation of the hypothalamus-pituitary-gonad axis. The effect of GnRHa therapy on body weight and fat distribution is controversial in the literature. We aimed to examine the anthropometric measurements and body composition analysis of the girls with ICPP and to investigate the effect of related factors...

Aim: Hypophosphatemic rickets (HR) is a rare renal phosphate wasting disorder commonly related to X-linked form, caused by PHEX mutations and it treatment and follow-up is challenging due to imperfect treatment options. Here we presented nationwide data on HR with initial and follow-up data on the patients presented to the pediatric endocrinology clinics before the age of 18 years.Results: From 24 centers, 158 patients (93 male/65 female) were i...

Introduction and Purpose: Patients with type 1 diabetes mellitus must be extremely concerned with what they eat and their insulin dose as part of their treatment. Therefore, the risk of eating disorders increases in this patient group. This study, it was aimed to determine the disordered eating behaviors of patients with Type 1 DM and to evaluate the results of the general demographic characteristics, diabetes care behaviors, and quality of life scale that whi...

Background: Genetic factors play an important key role in regulating the timing of puberty. The premature activation of pulsatile release of gonadotropin-releasing hormone(GnRH) before 8 and 9 years of age in girls and boys causes central precocious puberty(CPP). Pathogenic variants in DLK1 are associated with isolated familial CPP. Here, we report three siblings with a diagnosis of CPP with novel variant in DLK1.Case Report:</st...

Objective: The incidence of congenital hypothyroidism (CH) has increased worldwide. Lowering cut-off in screening programs has led to an increase in the rate of transient CH. We aimed to evaluate the rates of permanent and transient CH in cases referred from the screening program and to investigate the clinical and laboratory factors to predict the transient CH.Methods: 109 cases referred from the screening program to ou...

Background: McCune-Albright Syndrome(MAS）includes fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is uncommon but may be potentially severe complication.Objective: To report a girl who has been confirmed McCune-Albright syndrome and has been found pituitary adenoma during follow-up.Methods:</stron...

Introduction: Bardet-Biedl syndrome is a rare autosomal recessive disease, characterized by rod-cone dystrophy, truncal obesity, left foot polydactyly, cognitive impairment, male hypogonadotrophic hypogonadism, female genitourinary malformations, and renal abnormalities. The authors present 3 cases of Bardet-Biedl syndrome diagnosed during pediatric age.Case description: Case1: A 3-year-old girl with a f...

Introduction: APECED Syndrome; is a rare, autosomal recessive disease caused by mutations in the autoimmun regulatuar AIRE gene on the chromosome 21. Although classical triad is mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency; endocrine / non-endocrine involvement may also be seen. Possible involvement should be evaluated without any clinical signs. We report a case of APECED syndrome with autoimmune hypophysitis secondary to growth hor...